Genetics & Health

Key Areas of Research Activity
Genetics & Health researchers pursue translational genetics research at the interface of clinical investigation and basic genetics and genomics research.

In addition, some of our researchers participate in community-based health research, health services research, or GE3LS (genetic [or genomic] ethical, legal, economic, environmental, legal, and social) activities.

Our research benefits children with birth defects or mental retardation and other serious neurocognitive abnormalities, as well as their families, and pregnant women who are at risk of having children with such abnormalities. Our studies permit identification of many genetic conditions for which the cause cannot currently be defined. When the cause is found, genetic counselling can be offered, prenatal diagnosis and other reproductive options can be considered, unnecessary diagnostic testing can be avoided, and more accurate prognosis and more appropriate educational and social interventions can be provided.

Genetics & Health Researchers
Our researchers have interests and expertise in a variety of genetic and inherited conditions, diseases and disorders:

Laura Arbour
autoimmune liver disease; congenital heart disease; prevention of birth defects; Aboriginal populations

Linlea Armstrong
clinical genetics; neurofibromatosis; dysmorphology; hereditary cancer

Marion Coulter-Mackie
molecular and biochemical genetics of inherited metabolic disorders; peroxisome, molecular biology, mutation, protein folding, co-factor binding

Leigh Field
human gene discovery and gene mapping; dyslexia; type 1 (insulin-dependent) diabetes; non-syndromic cleft lip/palate; population genetics; genetic epidemiology; genetic linkage and association

Jan Friedman
medical genetics; neurofibromatosis; clinical teratology; genetic epidemiology; molecular cytogenetics

Judith Hall
clinical genetics; syndrome identification; birth defects; genetics of short stature, including dwarfism, Turner syndrome, growth hormone deficiency; genetics of connective tissue disorders, including arthrogryposis; natural history of human genetic disorders; etiology of congenital anomalies including neural tube defects, thrombocytopenia absent readius, twins, and many other syndromes; non-traditional inheritance including mosaicism, uniparental disomy, genomic imprinting, and parent of origin effects; folic acid

Sylvie Langlois
studies of genotype/phenotype correlations in single gene disorders; validations of genomic tools for the study of mental retardation and prenatal screening for aneuploidy; outcome studies related to prenatal genetic screening

Evica Rajcan-Separovic
chromosomal etiology of intellectual disability/autism and cancer; molecular cytogenetics; identification of subtle chromosomal abnormalities using whole genome arrays

Hilary Vallance
biochemical genetics; newborn screening

Margot Van Allen
etiology, pathogenesis, prevention and epidemiology of congenital anomalies; neural tube defects; craniofacial disorders; limb abnormalities; multiple congenital anomaly disorders (syndromes)

Paula Waters
clinical biochemical genetics

Other Researchers
Other researchers affiliated with the Genetics & Health research cluster include:

Jehannine Austin
Carolyn Brown
Lorne Clarke
William Gibson
Fred Kozak
Suzanne Lewis
Sai Ma
Deborah McFadden
Wendy Robinson

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Last updated: 03/11/2010